Article
A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review.
Journal of genetics - 1 Dec 2017
Liu Shuai-Mei, Ni Meng-Xia, Zhang Ming-Chao, Zhu Pei-Ran, Wu Qiu-Yu, Jiang Wei-Jun, Zhang Jing, Li Wei-Wei, Xia Xin-Yi
Abstract excerpt
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle. Identification of RNA-specific adenosine deaminase 1 (ADAR1) gene results in DSH. This study was mainly to explore the pathogenic mutation of ADAR1 gene and...
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